ClinVar Miner

Submissions for variant NM_152419.3(HGSNAT):c.1150C>T (p.Arg384Ter) (rs775078211)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000664501 SCV000788471 pathogenic Mucopolysaccharidosis, MPS-III-C 2017-04-21 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000780339 SCV000917522 pathogenic Sanfilippo syndrome 2018-01-25 criteria provided, single submitter clinical testing Variant summary: The HGSNAT c.1150C>T (p.Arg384X) variant results in a premature termination codon, predicted to cause a truncated or absent N-acetyltransferase due to nonsense mediated decay, which are commonly known mechanisms for disease. This variant was found in 4/277476 control chromosomes at a frequency of 0.0000144, which does not exceed the estimated maximal expected allele frequency of a pathogenic HGSNAT variant (0.001). The variant has been reported in multiple patients, both homozygously and in compound heterozygosity with known pathogenic variants. Taken together, this variant is classified as pathogenic.
Invitae RCV000793723 SCV000933090 pathogenic Mucopolysaccharidosis, MPS-III-C; Retinitis pigmentosa 73 2018-12-14 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg384*) in the HGSNAT gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs775078211, ExAC 0.001%). This variant has been observed in individuals affected with mucopolysaccharidosis type III (PMID: 17033958, 23301227). This variant is also known as c.1234C>T (p.R412X) in the literature. ClinVar contains an entry for this variant (Variation ID: 549921). Loss-of-function variants in HGSNAT are known to be pathogenic (PMID: 17033958, 19479962, 25859010). For these reasons, this variant has been classified as Pathogenic.
Natera, Inc. RCV000664501 SCV001460469 pathogenic Mucopolysaccharidosis, MPS-III-C 2020-09-16 no assertion criteria provided clinical testing
Clinical Genetics,Academic Medical Center RCV001698770 SCV001916983 pathogenic not provided no assertion criteria provided clinical testing
Human Genetics - Radboudumc,Radboudumc RCV001698770 SCV001951610 pathogenic not provided no assertion criteria provided clinical testing

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